Semi-dominant X-chromosome linked learning disability with progressive ataxia, spasticity and dystonia associated with the novel MECP2 variant p.V122A: Akin to the new MECP2 duplication syndrome?

✍ Scribed by Catherine McWilliam; A. Cooke; D. Lobo; J. Warner; M. Taylor; J.L. Tolmie

• Book ID: 113590464
• Publisher: Elsevier Science
• Year: 2010
• Tongue: English
• Weight: 115 KB
• Volume: 14
• Category: Article
• ISSN: 1090-3798
• DOI: 10.1016/j.ejpn.2009.06.007